MPS IIIA - Sanfilippo syndrome A

Stable Identifier
Homo sapiens
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Mucopolysaccharidosis III (MPS III, Sanfilippo syndrome) was described in 1963 by a pediatrician named Sylvester Sanfilippo (J. Pediat. 63: 837-838, 1963, no reference). Mucopolysaccharidosis IIIA (MPS IIIA, Sanfilippo syndrome A, MIM:252900) is a rare, autosomal recessive lysosomal storage disease characterised by severe CNS degeneration in early childhood leading to death between 10 and 20 years of age. A deficiency of the enzyme N-sulphoglucosamine sulphohydrolase (SGSH, MIM:605270), which normally hydrolyses the sulfate group from the terminal N-sulphoglucosamine residue of heparan sulfate (HS), leads to the build-up of HS in cells and tissues and its presence in urine (van de Kamp et al. 1981, Yogalingam & Hopwood 2001, de Ruijter et al. 2011). The gene encoding N-sulfoglucosamine sulfohydrolase, SGSH, was cloned in 1995 (Scott et al.1995) and, later, shown to contain 8 exons spanning approximately 11 kb (Karageorgos et al. 1996).

Literature References
PubMed ID Title Journal Year
7493035 Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome

Blanch, L, Morris, CP, Orsborn, A, Guo, XH, Hopwood, JJ, Sutherland, GR, Freeman, C, Scott, HS, Baker, E

Nat Genet 1995
6796310 Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)

Niermeijer, MF, van de Kamp, JJ, Giesberts, MA, von Figura, K

Clin Genet 1981
11668611 Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications

Hopwood, JJ, Yogalingam, G

Hum Mutat 2001
21235449 Mucopolysaccharidosis type III (Sanfilippo Syndrome): emerging treatment strategies

Valstar, MJ, Wijburg, FA, de Ruijter, J

Curr Pharm Biotechnol 2011
8946167 Structure and sequence of the human sulphamidase gene

Weber, B, Anson, DS, Guo, XH, Hopwood, JJ, Karageorgos, LE, Blanch, L, Scott, HS

DNA Res. 1996
Name Identifier Synonyms
mucopolysaccharidosis III DOID:12801 Sanfilippo's syndrome, SANFILIPPO SYNDROME B, N-sulphoglucosamine sulphohydrolase deficiency, Sanfilippo's syndrome, mucopolysaccharidosis type IIIB, NAGLU DEFICIENCY, mucopolysaccharidosis type IIIA, Mucopolysaccharidosis, MPS-III, Mucopolysaccharidosis, MPS-III-B (disorder), mucopolysaccharidosis III, SANFILIPPO SYNDROME A, N-ACETYL-ALPHA-D-GLUCOSAMINIDASE DEFICIENCY, HEPARAN SULFATE SULFATASE DEFICIENCY, mucopolysaccharidosis type III
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